Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia
- 1Royal Brompton and Harefield NHS Trust, London, UK
- 2National Heart and Lung Institute, Imperial College London, London, UK
- Correspondence to Dr Amelia Shoemark, Electron Microscopy Unit, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK; a.shoemark{at}rbht.nhs.uk
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Contributors AS, AD, BC: article concept and design. AS, MD: study conduct, data collection and analysis. AS, MD, BC, AD: manuscript drafting, editing, reporting and approval of the final manuscript . Guarantor: AS.
- Accepted 30 October 2011
- Published Online First 1 December 2011
Abstract
Background The examination of ciliary ultrastructure in a nasal sample remains a definitive diagnostic test for primary ciliary dyskinesia (PCD).
Methods The quantitative assessment of ciliary ultrastructure in the diagnosis of PCD over a 20-year period was reviewed.
Results During this period, 1182 patients were referred for ciliary ultrastructural analysis, 242 (20%) of whom were confirmed as having the disease. The two main causes of PCD identified were a lack of outer dynein arms (43%) and a lack of both inner and outer dynein arms (24%). Other causes included transposition, radial spoke and inner dynein arm defects. No specific ultrastructural defects were detected in 33 patients (3%) diagnosed as having PCD on the basis of their clinical features and screening tests that included a low nasal nitric oxide concentration or slow saccharine clearance and abnormal ciliary beat frequency or pattern.
Conclusions Electron microscopy analysis can confirm but does not always exclude a diagnosis of PCD.
- Electron microscopy
- ultrastructure
- primary ciliary dyskinesia
- diagnosis
- cilia
- lung
- diagnostics
- electron microscopy
- inherited pathology
- cell biology
Footnotes
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Funding The PCD service is currently supported by the Advisory Group for National Specialised Services (AGNSS). Together with units in Leicester and Southampton, it provides a national diagnostic service for PCD.
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Competing interest None declared.
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Ethics approval The study is an audit/review of a diagnostic service and no interventions were performed.
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Provenance and peer review Not commissioned; externally peer reviewed.
